GUCA1A

Chr 6p21.1

guanylate cyclase activator 1A

Aliases:: GCAP, GCAP1, COD3, dJ139D8.6, CORD14
MANE:: ENST00000372958.2

OMIM: 600364 ↗NCBI: 2978 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

GUCA1A · P43080

v62025-08-01

Predicted Aligned Error matrix for GUCA1A — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.4/ 100

Confident

201 residues

Confidence breakdown

Very high(≥ 90)1%
Confident(70–90)65%
Low(50–70)18%
Very low(< 50)16%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Glaucoma (developmental)
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

cone dystrophy 3
0.83
Cone rod dystrophy
0.76
Progressive cone dystrophy
0.71
cone-rod dystrophy
0.59
cone-rod dystrophy 14
0.55
Retinal dystrophy
0.54
Macular dystrophy
0.49
Rod-cone dystrophy
0.47
central areolar choroidal dystrophy
0.39
cone dystrophy
0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Guanylyl cyclase-activating protein 1

Stimulates retinal guanylyl cyclase when free calcium ions concentration is low and inhibits guanylyl cyclase when free calcium ions concentration is elevated (PubMed:18706439, PubMed:19459154, PubMed:30184081, PubMed:30622141). This Ca(2+)-sensitive regulation of retinal guanylyl cyclase is a key event in recovery of the dark state of rod photoreceptors following light exposure (By similarity). May be involved in cone photoreceptor light response and recovery of response in bright light (By similarity)